Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518792
rs1057518792
NF1
2 1.000 0.080 17 31229024 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1057518807
rs1057518807
NF1
3 0.882 0.200 17 31338788 stop gained C/T snv 0.700 0
dbSNP: rs1057518842
rs1057518842
NF1
5 1.000 0.080 17 31227215 splice region variant T/G snv 0.700 0
dbSNP: rs1057518904
rs1057518904
NF1
5 0.882 0.240 17 31221932 missense variant A/G snv 0.700 0
dbSNP: rs137854550
rs137854550
NF1
10 0.790 0.360 17 31258500 missense variant A/C;G snv 0.700 0
dbSNP: rs1555533285
rs1555533285
NF1
3 1.000 0.080 17 31325859 stop gained C/G snv 0.700 0
dbSNP: rs1555534929
rs1555534929
NF1
4 1.000 0.080 17 31337882 splice donor variant T/- del 0.700 0
dbSNP: rs1555608663
rs1555608663
NF1
1 1.000 0.080 17 31181451 frameshift variant -/GG ins 0.700 0
dbSNP: rs1555613206
rs1555613206
NF1
3 0.925 0.200 17 31221929 missense variant G/A;T snv 0.700 0
dbSNP: rs1555618516
rs1555618516
NF1
3 0.925 0.080 17 31258405 missense variant G/C snv 0.700 0
dbSNP: rs397514641
rs397514641
NF1
11 0.827 0.320 17 31169985 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs760703505
rs760703505
NF1
5 0.882 0.200 17 31261733 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs886041347
rs886041347
NF1
13 0.790 0.320 17 31229061 stop gained C/T snv 0.700 0